Overview: Albinism is a visible disorder in which the body produces little to no pigment melanin. This results in minimal color given to the hair, eyes, or skin. There are various types of Albinism due to mutations of a multitude of genes. Some of the different types include Oculocutaneous Albinism (OCA)and Ocular Albinism (OA) where the latter is much less common; the focus of this article will be placed on OCA. It is a genetic disorder caused by only one gene.(1)
Genetics: This disorder can be caused by mutations to the TYR, OCA2, MC1R, TYRP1, and SLC45A2 genes which cause type 1, type 2, type 2, type 3, and type 4 respectively. Each type of the disease alters the severance of the disorder. People inherit this disorder through an autosomal recessive pattern which means both parents have the mutated recessive gene. The majority of the time, the parents are carriers of the disease meaning they only have one copy of the mutated recessive gene whereas their child has both copies mutated. (2)
Signs and Symptoms: For a person who is a carrier of the disorder, there is no way to tell if they have the mutated gene because they do not display it in any manner. However, if someone has both recessive alleles, then that person will display the discoloration of the skin, hair, and eyes. The discoloration is due to the absence or minimal existence of melanin in the body. Therefore, the skin is always extremely white along with the hair; the eyes are usually red. Secondary symptoms include inability to absorb sunlight. The skin can burn within minutes.
Distribution: About 1 in 20,000 people are affected by Albinism. Type 1 and 2 or much more common than type 3 and 4. Type 2 Albinism occurs most frequently African American groups as well as some Native American groups. Type 3 is mainly seen in Southern African people, and type 4 is most common in people of Japanese and Korean descent. Each type of Albinism is more common among certain ethnic groups because those groups contain more recessive alleles for the Albinism genes. (3)
Management and Treatment: There is no current cure for Albinism, but there are ways to treat some symptoms of the genetic disorder. The best treatment for Albinism is at least one eye and skin appointment each year to prevent things like extremely impaired vision and skin cancer. (4)
Miscellaneous: Here are some interesting facts about Albinism.
Because of the murders and assaults of people who have Albinism in some parts of the world, the United Nations General Assembly declared the 13th of June International Albinism Awareness Day.
It is estimated that 1 in 70 people carry Albinism genes but are not affected which means that they are heterozygous.
As people with Albinism get older, sometimes they discover that their skin begins to darken slightly.
Witchcraft-related murders of those with Albinism have grown in some African countries.
Newborn babies who have Albinism tend to have vision problems at their worst at birth but they tend to improve during their first six months. (5)
Society and Culture: When people see Albinism they notice the white hair and skin. Also, the eyes of a child with Albinism might be moving around rapidly and not focusing together. The child may adjust to try to see such as squinting, tilting their head, and moving things closer to see. Lots of children with Albinism use glasses to see better. In books and movies, A character with albinism is usually the villain, ghost, or any type of “bad guy.” This disorder affects the way a person is able to contribute to society because the person doesn’t feel physically different, but they feel different from the production in their everyday life. People with Albinism can feel a lot of pressure and get stressed out trying to improve their vision. Also, people with Albinism can be led by the pressure to denying the fact that they have Albinism to try to feel like others. Different cultures can view this disorder differently, a common myth that African-Americans believe in is that Albinism can come from an African-American female mating with a Caucasian male. Also, some languages such as English use the term “Albino” to describe someone who has Albinism. Some people with Albinism are comfortable with the term and some people are not. (6)
History: Albinism was named by Balthazar Telez in the 17th Century. The disorder was named when Balthazar Telez was traveling in West Africa and had saw a tribe that had some people with Albinism and some without Albinism. He had thought that the people with Albinism were a different race so he had called them “Albino” which means white negro. Albinism has evolved over time. In 1869, a doctor had said that the negroes with Albinism were of superior intelligence because of their “superior” color. (7) In 1908, a Britain physician and scientist named Sir Archibald Garrod had studied Albinism and said that it came from a failure of an intracellular enzyme, which was later proved false. (8)
Further Research: The National Organization for Albinism and Hypopigmentation (NOAH)provides accurate and authoritative information about all aspects of living with albinism and to provide a place where people with albinism and their families, in the United States and Canada, can find acceptance, support and fellowship. NOAH was founded in 1982. NOAH is a non profit organization meaning they do not make any money. People can join or donate to NOAH. (9)
Image result for albino person
A Boy with Albinism
Image result for albino dog
A Dog with Albinism
A Video of a Dog who Must Wear Sunglasses to be Protected.
Works Cited:
1. “Albinism.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/5768/albinism.
2. “Oculocutaneous Albinism - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/oculocutaneous-albinism.
3. “Oculocutaneous Albinism - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/oculocutaneous-albinism.
4. “Albinism.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 7 Apr. 2018, www.mayoclinic.org/diseases-conditions/albinism/diagnosis-treatment/drc-20369189.
Genetics: This disorder can be caused by mutations to the TYR, OCA2, MC1R, TYRP1, and SLC45A2 genes which cause type 1, type 2, type 2, type 3, and type 4 respectively. Each type of the disease alters the severance of the disorder. People inherit this disorder through an autosomal recessive pattern which means both parents have the mutated recessive gene. The majority of the time, the parents are carriers of the disease meaning they only have one copy of the mutated recessive gene whereas their child has both copies mutated. (2)
Signs and Symptoms: For a person who is a carrier of the disorder, there is no way to tell if they have the mutated gene because they do not display it in any manner. However, if someone has both recessive alleles, then that person will display the discoloration of the skin, hair, and eyes. The discoloration is due to the absence or minimal existence of melanin in the body. Therefore, the skin is always extremely white along with the hair; the eyes are usually red. Secondary symptoms include inability to absorb sunlight. The skin can burn within minutes.
Distribution: About 1 in 20,000 people are affected by Albinism. Type 1 and 2 or much more common than type 3 and 4. Type 2 Albinism occurs most frequently African American groups as well as some Native American groups. Type 3 is mainly seen in Southern African people, and type 4 is most common in people of Japanese and Korean descent. Each type of Albinism is more common among certain ethnic groups because those groups contain more recessive alleles for the Albinism genes. (3)
Management and Treatment: There is no current cure for Albinism, but there are ways to treat some symptoms of the genetic disorder. The best treatment for Albinism is at least one eye and skin appointment each year to prevent things like extremely impaired vision and skin cancer. (4)
Miscellaneous: Here are some interesting facts about Albinism.
Society and Culture: When people see Albinism they notice the white hair and skin. Also, the eyes of a child with Albinism might be moving around rapidly and not focusing together. The child may adjust to try to see such as squinting, tilting their head, and moving things closer to see. Lots of children with Albinism use glasses to see better. In books and movies, A character with albinism is usually the villain, ghost, or any type of “bad guy.” This disorder affects the way a person is able to contribute to society because the person doesn’t feel physically different, but they feel different from the production in their everyday life. People with Albinism can feel a lot of pressure and get stressed out trying to improve their vision. Also, people with Albinism can be led by the pressure to denying the fact that they have Albinism to try to feel like others. Different cultures can view this disorder differently, a common myth that African-Americans believe in is that Albinism can come from an African-American female mating with a Caucasian male. Also, some languages such as English use the term “Albino” to describe someone who has Albinism. Some people with Albinism are comfortable with the term and some people are not. (6)
History: Albinism was named by Balthazar Telez in the 17th Century. The disorder was named when Balthazar Telez was traveling in West Africa and had saw a tribe that had some people with Albinism and some without Albinism. He had thought that the people with Albinism were a different race so he had called them “Albino” which means white negro. Albinism has evolved over time. In 1869, a doctor had said that the negroes with Albinism were of superior intelligence because of their “superior” color. (7) In 1908, a Britain physician and scientist named Sir Archibald Garrod had studied Albinism and said that it came from a failure of an intracellular enzyme, which was later proved false. (8)
Further Research: The National Organization for Albinism and Hypopigmentation (NOAH)provides accurate and authoritative information about all aspects of living with albinism and to provide a place where people with albinism and their families, in the United States and Canada, can find acceptance, support and fellowship. NOAH was founded in 1982. NOAH is a non profit organization meaning they do not make any money. People can join or donate to NOAH. (9)
A Boy with Albinism
A Dog with Albinism
A Video of a Dog who Must Wear Sunglasses to be Protected.
Works Cited:
1. “Albinism.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/5768/albinism.
2. “Oculocutaneous Albinism - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/oculocutaneous-albinism.
3. “Oculocutaneous Albinism - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/oculocutaneous-albinism.
4. “Albinism.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 7 Apr. 2018, www.mayoclinic.org/diseases-conditions/albinism/diagnosis-treatment/drc-20369189.
5. “Albinism Facts.” Math, www.softschools.com/facts/human_body/albinism_facts/3214/.
6. www.albinism.org/information-bulletin-social-aspects-of-albinism/.
7. “History.” Home «, 12 Oct. 2016, www.goldenalbinism.com/history/.
8. “Snowy Stardom.” Protein Spotlight, 1 Aug. 2004, web.expasy.org/spotlight/back_issues/049/.
9. www.albinism.org/